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congenital fibrosis of the extraocular muscles 3A
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
- Super Class
- autosomal dominant disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081017
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009380 | Finger aplasia |
| HP:0000542 | Impaired ocular adduction |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0000616 | Miosis |
| HP:0002126 | Polymicrogyria |
| HP:0000486 | Strabismus |
| HP:0000646 | Amblyopia |
| HP:0002194 | Delayed gross motor development |
| HP:0000512 | Abnormal electroretinogram |
| HP:0009916 | Anisocoria |
